Canonical Allele Identifier: PA2827378872
Gene: DPH1 HGNC NCBI
ClinVar RCV:
RCV004527542
ClinVar Variation:
3233395
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001333505.1:p.Phe99Ser
CA397604337
NM_001346576.2:c.296T>C